Symptoms of Autoinflammatory Disease - Find How to Manage It?

Find Here Autoinflammatory Diseases: Causes and Symptoms

When the immune system malfunctions, it can either fail to protect the body from infections or mistakenly attack healthy cells, leading to diseases. One of such conditions are called autoinflammatory diseases.  

Autoinflammatory diseases are conditions in which the body's immune system mistakenly targets and damages its own healthy tissues. This results from an abnormal immune response that triggers inflammation without external cause, such as infection.

Due to such misregulated activation of immune cells towards your own body, it induces mass destruction of the healthy cells. The latest data highlight more than 485 inborn genetic mutations have been identified as causing such inflammations. 

Let us see some more insights into the disease and discuss its causes, symptoms, and other related details.

What is an Autoinflammatory Disease? 

Autoinflammatory syndrome refers to a group of diseases characterised by recurrent flare-ups of rashes, fevers and symptoms of other pathologies. 

Such diseases occur due to the mutations developed in the genes that regulate your innate immune system. This is a compact answer to the question of what an autoinflammatory disease is.

Symptoms of Autoinflammatory Disease

There are several variations in the autoinflammatory disease symptoms from one patient to another. However, certain general symptoms that a patient might face are:

• Joint swelling and pain
• Feeling tired 
• Abdominal pain or digestive issues 
• Recurring fever
•  Rashes
• Migraines 
• Chest pain
• Temperature sensitivity
• Swollen glands, etc. 

Please note that these autoinflammatory disease symptoms do not confirm that you have the disease alone. 
Post consultation with a professional, generate specific reports regarding blood markers or tissue biopsy as per their recommendations.

Causes of Autoinflammatory Disease

There is no single cause of the disease, but multiple factors spike the immune system of an individual. However, certain risk factors might increase the chances of getting an autoimmune disease. Some of the plausible risk factors are: 

• Medications for blood pressure control, statins, and antibiotics
• If the autoimmune disease runs in your family (mainly mutations in the inflammasome complexes)
• Smoking
• The patient presents a history of autoimmune diseases
• Exposure to toxins
• Being female, 78% of the patients of people who have autoimmune diseases are females. 

Additionally, multiple inflammasome complexes and their mutations are associated with autoinflammatory syndrome. Some of them are listed below: 

Genetic Mutations: 

• Gain of function mutations in the NLRP-3 gene have been detected in Cryopyrin Associated Periodic Syndromes (CAPS). 
• Mutations in the NLRC-4 gene have been identified for MAS (Macrophage Activation Syndrome). 
• Mutations in the Tumour Necrosis Factor (TNF) result in the TNF Receptor Associated Periodic Syndromes. 

Other Trigger Factors:

• Substances that are produced during physiological, chemical reactions in the body. 
• Cold air or sudden temperature changes (CAPS), stressors (including all periodic fever syndromes), or even vaccinations (HIDS/MKD)

Ultimately, the higher amounts of inflammasome complexes and gene mutations mentioned above cause the production of mature IL-1β and IL-18 inflammatory cytokines. Thus, due to such problems, your immune system goes haywire and starts affecting the healthy cells.

Types of Autoinflammatory Diseases 

Autoinflammatory diseases are a category of disease that mostly affects the immune response of the cells. Common autoinflammatory disease list are: 

Behcet’s Disease 

• Children between the ages of 20 and 30 are prone to the disease. This disease is similar to vasculitis (inflammation of the blood vessels) which varies up to various degrees of severity and complications. 

Familial Mediterranean Fever

• Familial Mediterranean Fever, or FMF, is one of the types of autoinflammatory diseases that causes recurrent fevers. These fevers are usually accompanied by episodes of joint pain, muscle pain or rash, starting early in childhood.

Cryopyrin Associated Periodic Syndrome or CAPS

• The cryopyrin-associated periodic syndrome is a rare hereditary disease causing abnormal inflammations. CAPS passes down in an autosomal dominant manner, thus one of the parents are carrier of the mutated gene. 

TNF Receptor Associated Periodic Syndrome or TRAPS

• TRAPS is a rare genetic disease with periods of fevers lasting for more than a week. The disease also causes feverish chills, muscle and abdominal pain, and the spread of skin rash. This is one of the common symptoms of this autoinflammatory disorder in humans.

Deficiency of IL-1 Receptor Antagonist or DIRA 

• This is one of the autosomal recessive genetic diseases falling under the autoinflammatory disease list. In autosomal recessive disorders such as DIRA, both copies of the gene have abnormal mutations.

Hyper-IgD Syndrome 

• This is one of the autoinflammatory disorders that occurs due to a deficiency of the Mevalonate Kinase. The disease as mentioned previously occurs due to the inherited recessive gene mutation in the MVK gene. 

Adult Onset Still’s Disease or AOSD

• This is a type of autoinflammatory arthritis, which commonly includes joint pains, along with high fever and rash. The exact reason for the disease is still unavailable but many researchers indicate viral or bacterial infections. 

Diagnosis for Autoinflammatory Diseases 

Here, we will present a list of diagnostic techniques available for each of the types of autoinflammatory syndromes. 

• Behcet’s Disease: Diagnosis typically involves blood tests and pathergy tests by using a sterile needle. 
• Familial Mediterranean Fever: Checked by viewing past family history along with blood and urine tests using certain markers. Elevated white blood cells and the presence of amyloidosis protein indicate positive FMS. 
• CAPS: A blood test is performed for elevated levels of CRP (or C-reactive protein) and Amyloid A. A professional also checks some other symptoms and uses their expertise to confirm the disease. 
• TRAPS: This autoinflammatory disorder is tested by using blood tests to look for increased neutrophil count. Along with that, a professional checks for elevated acute-phase reactants, or polyclonal antibodies. On positive results, the professional checks for the TNFRSF1A gene and checks if it is a pathogenic variant of the gene. 
• DIRA: This autoinflammatory syndrome can only be identified by genetic mutations in the IL1RN gene. Other than that, a clinician might also recommend bloodwork for ESR, CRP, WBC, and platelet count to identify their elevation levels. 
• Hyper-IgD Syndrome: This is one of the autoinflammatory conditions that can be diagnosed by elevated levels of IgD (>100 units/L). Confirmation of the disease requires analysis of mutations in the MVK gene. Along with that elevated levels of mevalonic acid in urine confirms the disease. 
• AOSD: AOSD can be checked by performing the complete blood count, CRP, ESR, Ferritin (high), and LFT test. Elevated levels of all these and negative tests for Rheumatoid factor and ANA test help in diagnosis. Blood cultures and viral studies will also be negative.

  
These are some of the common diagnosis methods for understanding the disease. 

Treatment or Management of the Disease 

There is no specific treatment that can resolve autoinflammatory conditions. The disease has several types, and each has unique challenges to treat. However, as per research, some of the possible medications available are:

• Painkillers 
• Insulin Injections 
• Plasma exchanges
• Corticosteroids 
• Rash cream
•  Intravenous immunoglobulins
• Anti-inflammatory drugs
• Immunosuppressants 

It is difficult to provide a set of medications for the disease, depending on the problems you face consider visiting a professional. Depending on the nature of the autoinflammatory conditions you face, an interdepartmental team of doctors might help you. 

Final Words 

Autoinflammatory diseases are rare but can be life-threatening in case they are not treated. If you are facing such symptoms, it is essential to consult a doctor immediately. These diseases are difficult for a patient to live with hence, it is better to diagnose the conditions faster. 

Researchers are also continually working to recognise and diagnose such diseases. If you are aware of these conditions running in your family, kindly talk with your healthcare provider. Faster diagnosis helps you to start treatments faster and endure fewer complications.